Clefting
Gene: SUMO1EnsemblGeneIds (GRCh38): ENSG00000116030
EnsemblGeneIds (GRCh37): ENSG00000116030
OMIM: 601912, Gene2Phenotype
SUMO1 is in 2 panels
3 reviews
Louise Daugherty (Genomics England Curator)
Comment on publications: added publication suggested by reviewerCreated: 8 Feb 2017, 2:38 p.m.
Comment on list classification: Demoted gene from Amber to Red status due to expert review comments and evidence in paper 22492558Created: 19 Dec 2016, 4:39 p.m.
Philip Stanier (UCL-ICH)
Several studies have reported an association with cleft lip and some find no association. A Sanger sequencing study in a cohort of cleft lip and palate patients did not find any evidence for causal mutations. An early report found a low penetrance of cleft palate in a genetrap mouse model. Subsequent studies which have included a constitutive knockout, another genetrap and regeneration of the original genetrap, all failed to demonstrate a cleft palate phenotype.Created: 14 Dec 2016, 3:27 p.m.
Mode of inheritance
Unknown
Publications
- PMID: 22492558
Mode of pathogenicity
Other
Usha Kini (Oxford Centre for Genomic Medicine)
Polymorphisms increase risk of cleftingCreated: 8 Dec 2016, 9:49 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Orofacial cleft 10, 613705
- Cleft Lip with or without Cleft Palate
- OMIM
- 601912
- Clinvar variants
- Variants in SUMO1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
Set publications
Louise Daugherty (Genomics England Curator)Publications for SUMO1 were set to 22492558
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance, Added New Source
Olivia Niblock (Genomics England Curator)SUMO1 was added to Cleftingpanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene SUMO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Olivia Niblock (Genomics England Curator)SUMO1 was added to Cleftingpanel. Sources: Radboud University Medical Center, Nijmegen
Created
Olivia Niblock (Genomics England Curator)SUMO1 was created by oniblock